Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 1,544,022 C→A 100% L13F (TTG→TTT narU ← nitrate/nitrite transporter

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA1,544,0220CA100.0% 100.6 / NA 32L13F (TTG→TTTnarUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (18/14);  total (18/14)
Rejected as polymorphism: Frequency below/above cutoff threshold.
Rejected as polymorphism: Variant not supported by required number of reads on each strand.

GATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGCAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGG  >  NC_000913_3_hsa_tpiA/1543883‑1544152
                                                                                                                                            |                                                                                                                                    
gaTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAaaaaagata                                                                                                                           <  1:377057/149‑6 (MQ=255)
  ttAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAAc                                                                                                                          <  1:147367/149‑1 (MQ=255)
                         cagccAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGTGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGt                                                                                                   <  1:483754/146‑1 (MQ=255)
                                acacAGAAGGCAAGAAGTAGACAACGGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGTCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCatat                                                                                            <  1:621042/149‑1 (MQ=255)
                                     gAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc                                                                                       <  2:395841/149‑1 (MQ=255)
                                            agaagTAGACTACTGACTGATATTGAGAGAGTGTTTTGAGCAACATGTTTTCCTTTATGTTCCCAGAAGGCCGGATGTTCTGGTGTCCAGTCGCGAAAAAAGATAACGTCTATTTTTCTCTTTTTGCAGTGCCATATTGTTCCTCACAt                                                                                <  2:188347/149‑1 (MQ=255)
                                                        ctgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGt                                                                    >  1:492834/1‑149 (MQ=255)
                                                           actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAAt                                                                 >  1:218845/1‑149 (MQ=255)
                                                             tgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAATCGCGAAAAAAGATAACGCCTCTTTTTCTCATTTTGCAGTGCCATATTGTTACTCACATGCACCCATTGGTCATGa                                                               >  2:548413/1‑149 (MQ=255)
                                                               atatCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaa                                                             >  1:131250/1‑149 (MQ=255)
                                                                 atCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaa                                                           >  2:383972/1‑149 (MQ=255)
                                                                  tCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATACACACATTAGTAATGaaaaaa                                                          >  2:94746/1‑149 (MQ=255)
                                                                  tCCAGAGATTTCTTCGAACAATATGTTCTCCTTTATTTTCCAAGCAGGCCGGATTTCATGATCTCCAGTCGCGAAAAAAAATAACGACTATTTTTCTCATTTTGCAGTCCCCTATTGTCCCTCACATGCACACATCGGTAATGaaaaaa                                                          >  2:613576/1‑149 (MQ=255)
                                                                    cAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAg                                                        >  1:347830/1‑149 (MQ=255)
                                                                     agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAGAGATAACGACTATTTTTCTCATTTTGCAGTTCCATATTGTTCCTCACATTCACACATTGGTAATAAAAAAAAGa                                                       >  2:220862/1‑149 (MQ=255)
                                                                     agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTCAGGACGCGCGAAAAAAGAATTCTACTATTTTTCTCATTTTGGAGTTCCATATTGTTCCTCACACGCACACATTGGTAATGAAAAAAAGa                                                       >  1:678725/1‑149 (MQ=255)
                                                                            tcttcGCGCAATACGTTGTACAAAATTTTACCAGAAATCCGGATTGTCTGAATTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACCTGCACACTTTGGTAATGAAAAAAAGACAAAaca                                                >  2:404414/1‑149 (MQ=255)
                                                                              ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAacaag                                              >  1:654090/1‑147 (MQ=255)
                                                                                cGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAg                                            >  1:11455/1‑149 (MQ=255)
                                                                                cGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAg                                            <  1:366732/149‑1 (MQ=255)
                                                                                 gAGCAAGATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAgg                                           <  2:323012/149‑1 (MQ=255)
                                                                                     aaTATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAg                                       >  1:154726/1‑149 (MQ=255)
                                                                                             ttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACaaaa                                                  <  2:350725/130‑1 (MQ=255)
                                                                                             ttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACaaaa                                                  >  1:350725/1‑130 (MQ=255)
                                                                                                 tttATTTTCCCAGAAGGGCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCa                           <  2:503817/149‑1 (MQ=255)
                                                                                                  ttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAg                          <  1:619658/149‑1 (MQ=255)
                                                                                                      tttCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGttat                      >  1:345475/1‑149 (MQ=255)
                                                                                                               aGGCCGTATTTTCTGGGTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGGAGTGCGATATTGTTCCTCAAATGCACACATTGGTAATGAAAAAAAGACAAAACCCGAGGTAAGGCGCAATAGCCAGTTATTAGAATTaa             <  2:346295/149‑1 (MQ=255)
                                                                                                               aGGCCCGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTaa             <  1:52397/149‑1 (MQ=255)
                                                                                                                ggCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAg            >  1:501995/1‑149 (MQ=255)
                                                                                                                 gCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAgg           >  2:684878/1‑149 (MQ=255)
                                                                                                                          tatGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTgg  <  1:1987/147‑1 (MQ=255)
                                                                                                                                            |                                                                                                                                    
GATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGCAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGG  >  NC_000913_3_hsa_tpiA/1543883‑1544152

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: